Varaico: Literature-Extracted Genetic Variants

Gene:SH2B2
Variant:p.A9S

SH2B2

116 papers

RefSeq Summary

The protein encoded by this gene is expressed in B lymphocytes and contains pleckstrin homology and src homology 2 (SH2) domains. In Burkitt's lymphoma cell lines, it is tyrosine-phosphorylated in res...

Pfam Domains

Phe_ZIPaa 22–78UCSCPhenylalanine zipper
PHaa 195–306UCSCPH domain
SH2aa 417–494UCSCSH2 domain

Gene Aliases

HGNC Name

SH2B adaptor protein 2

HGNC Alias Symbol

APS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001359228.2
p.A9S
c.25G>T
Surrounding Variants
2 papers
NM_001359228.2
p.V16L
c.46G>C
1 paper
NM_001359228.2
p.V16G
c.47T>G
1 paper
NM_001359228.2
p.M1T
c.2T>C
1 paper
NM_001359228.2
p.M1ins1
c.1_2insGTG
2 papers
NM_001359228.2
p.M1V
c.1A>G
1 paper
NM_001359228.2
p.P21L
c.62C>T
1 paper
NM_001359228.2
p.D22_W23del0
c.64_69del6
1 paper
NM_001359228.2
p.W23R
c.67T>A
1 paper
NM_001359228.2
p.E28Q
c.82G>C
2 papers
NM_001359228.2
p.L29P
c.86T>C
1 paper
NM_001359228.2
p.A31_Q32insFs
c.93_94insT
1 paper
NM_001359228.2
p.Q32insFs
c.94_95insT
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